International Journal of Clinical Research

Objective The main purpose of this study is to explore the application of peripheral blood cell karyotype analysis in patients with genetic diseases. Methods This study included 400 patients with genetic diseases, including Down syndrome, Klinefelter syndrome, etc., and compared them with 400 healthy controls. The incidence of chromosomal abnormalities was evaluated through karyotype analysis of peripheral blood cells and statistical analysis was performed. Results The study found that the incidence of chromosomal abnormalities in patients with genetic diseases was 40%, which was significantly higher than that in healthy controls. The incidence of chromosomal abnormalities is 60% in people with Down syndrome and 15% in people with Klinefelter syndrome. Statistical analysis showed that chromosomal abnormalities were significantly associated with the occurrence and clinical characteristics of the patients disease. Conclusion Chromosome karyotype analysis of peripheral blood cells has important clinical significance in monitoring patients with genetic diseases and can provide a basis for early diagnosis and individualized treatment. Future studies should further explore the mechanisms and clinical impact of chromosomal abnormalities in different genetic diseases.

Chromosome karyotype analysis; Hereditary diseases; Chromosomal abnormalities; Individualized treatment